ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter)

dbSNP: rs587783682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146153 SCV000193375 pathogenic Kabuki syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000146153 SCV000781639 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing

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